Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits
Sign Up to like & getrecommendations! Published in 2025 at "Nature Genetics"
DOI: 10.1038/s41588-024-01965-7
Abstract: Genetic studies of the metabolome can uncover enzymatic and transport processes shaping human metabolism. Using rare variant aggregation testing based on whole-exome sequencing data to detect genes associated with levels of 1,294 plasma and 1,396… read more here.
Keywords: graded effects; rare damaging; reveals graded; exome sequencing ... See more keywords
Exome sequencing in obsessive-compulsive disorder reveals a burden of rare damaging coding variants.
Sign Up to like & getrecommendations! Published in 2021 at "Nature neuroscience"
DOI: 10.1038/s41593-021-00876-8
Abstract: Obsessive-compulsive disorder (OCD) affects 1-2% of the population, and, as with other complex neuropsychiatric disorders, it is thought that rare variation contributes to its genetic risk. In this study, we performed exome sequencing in the… read more here.
Keywords: exome sequencing; coding variants; compulsive disorder; obsessive compulsive ... See more keywords
Patients with anorexia nervosa have an increased burden of rare, damaging mutations in the BBOX1 gene
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Eating Disorders"
DOI: 10.1186/s40337-025-01323-w
Abstract: People with anorexia nervosa (AN) exhibit a strong aversion to eating calorically dense foods, especially those high in fat. It has previously been reported that these patients display altered metabolism of fatty acids, however it… read more here.
Keywords: history; mutations bbox1; damaging mutations; rare damaging ... See more keywords